Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000731009 | SCV000618971 | uncertain significance | not provided | 2017-07-18 | criteria provided, single submitter | clinical testing | The S361C variant in the NPHP3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S361C variant is observed in 27/7898 (0.3%) alleles from individuals of East Asian background, in the ExAC dataset (Lek et al., 2016). The S361C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S361C as a variant of uncertain significance. |
EGL Genetic Diagnostics, |
RCV000731009 | SCV000858779 | uncertain significance | not provided | 2017-12-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764466 | SCV000895531 | uncertain significance | Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; Meckel syndrome type 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086831 | SCV001001650 | likely benign | Nephronophthisis | 2019-12-31 | criteria provided, single submitter | clinical testing |